Associated Papers
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S et al.
Investigative Ophthalmology & Visual Science, 2020
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Littink KW et al.
Ophthalmology, 2012
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
Naz S et al.
The British Journal of Ophthalmology, 2011
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T et al.
Acta Ophthalmologica Scandinavica, 2006
Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
Niwa Y et al.
Investigative Ophthalmology & Visual Science, 2005
[Clinical and genetic findings in a patient with fundus albipunctatus].
Rüther K et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2004
Inherited multifocal RPE-diseases: mechanisms for local dysfunction in global retinoid cycle gene defects.
Besch D et al.
Vision Research, 2003
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Nakamura M et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
Lidén M et al.
The Journal of Biological Chemistry, 2001
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy.
Wada Y et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2001
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
Nakamura M et al.
Investigative Ophthalmology & Visual Science, 2000
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
Sato M et al.
Ophthalmic Research, 0